Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
VCX_chrX_7838171_7849143	7843704	CCTGAGTC others(173): Show CCTGAGTCAGGAGGCCGAGCTGGAGGAACCACTGAGTCAGGAGAGCGAGG TGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAG GAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACC ACTGAGTCAGGAGAGCGAGGTGGAGGAACCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0004 a0034c0033t0004	a0034c0033t0004g0003 a0034c0033t0004g0003	2	341	0.0059	-180	c.322 others(7): Show c.322_501del	p.Ala others(13): Show p.Ala108_Glu167del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	355/781	322/621	108/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX_chrX_7838171_7849143	7843796	TGAGTCAG others(173): Show TGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTG GAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGA GAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCAC TGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04199.hp1 HG04199.hp1	a0080 a0080	a0080c0093 a0080c0093	a0080c0093t0001 a0080c0093t0001	a0080c0093t0001g0001 a0080c0093t0001g0001	1	341	0.0029	-180	c.418 others(7): Show c.418_597del	p.Val others(13): Show p.Val140_Glu199del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	451/781	418/621	140/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VPS53_chr17_503668_719839	612279	TGAAAACC others(173): Show TGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACAC AGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACC TGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAA CCTGTACAAATATTCACATAGTTCACACAGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18984.hp2 others(1): Show HG01074.hp2 NA18747.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 others(1): Show a0001c0002t0001 a0001c0002t0065 a0001c0002t0077 a0001c0011t0051	a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 others(1): Show a0001c0002t0001g0094 a0001c0002t0065g0093 a0001c0002t0077g0095 a0001c0011t0051g0091	4	232	0.0172	-180	c.111 others(21): Show c.1117-10563_1117-10384del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21						chr17	TogoVar
WDR81_chr17_1719704_1743585	1739697	AGGACAGT others(173): Show AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG03453.hp2 HG01071.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0003 a0001c0007t0001g0005 a0001c0003t0001g0003 a0001c0007t0001g0005	2	431	0.0046	-180	c.20 others(11): Show c.2013_*2192del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1113		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739853	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	431	0.0023	-180	c.21 others(11): Show c.2169_*2348del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1269		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740213	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02559.hp1 others(2): Show HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0001c0026 a0001c0036 others(1): Show a0001c0007 a0001c0026 a0001c0036 a0008c0024	a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 others(1): Show a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 a0008c0024t0008	a0001c0007t0001g0005 a0001c0026t0001g0028 a0001c0036t0001g0038 others(1): Show a0001c0007t0001g0005 a0001c0026t0001g0028 a0001c0036t0001g0038 a0008c0024t0008g0023	5	431	0.0116	-180	c.25 others(11): Show c.2529_*2708del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1629		chr17	TogoVar
ZIM3_chr19_57129096_57150202	57137874	GGAAGGAA others(173): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0199 a0005c0005t0001g0199	1	418	0.0024	-180	c.142 others(15): Show c.142+418_142+597del		ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4						chr19	TogoVar
ZNF165_chr6_28075568_28094563	28082157	TTTTCTTT others(173): Show TTTTCTTTATCATTGATAAATTTTGTTCTTACTTATACTCAAATTGTTTG TTTTCCAAGGTTCAGTCTGAACCTAGTGATATTTATTTCATACTCTTGGA GAATTAATACTGTTACATATCTTCAACTACCCTTTTCATGAATCTTGTCT GCCAAGACAAGCTCGGTCATGGAGACCCTAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	424	0.0024	-180	c.-1+ others(15): Show c.-1+1188_-1+1367del		ZNF165	ENSG00000197279.5	transcript	ENST00000683778.1	protein_coding	1/3						chr6	TogoVar
ADARB2_chr10_1172313_1742525	1236421	CCCCCCTG others(172): Show CCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCT CTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAG CTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGA ACATGCCTGCATTTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02109.hp2 HG01243.hp1 HG01934.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0005 a0002c0002t0006 a0001c0001t0011 a0002c0002t0005 a0002c0002t0006	a0001c0001t0011g0026 a0002c0002t0005g0022 a0002c0002t0006g0018 a0001c0001t0011g0026 a0002c0002t0005g0022 a0002c0002t0006g0018	3	106	0.0283	-179	c.136 others(19): Show c.1362-2755_1362-2577del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1236429	CCTCCAGC others(172): Show CCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATG GTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCT GAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCT GCATTTCCTTCTTCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03540.hp1 HG04184.hp2 HG02683.hp1 HG03540.hp1 HG04184.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0013 a0001c0001 a0002c0002 a0008c0013	a0001c0001t0009 a0002c0002t0002 a0008c0013t0020 a0001c0001t0009 a0002c0002t0002 a0008c0013t0020	a0001c0001t0009g0055 a0002c0002t0002g0075 a0008c0013t0020g0037 a0001c0001t0009g0055 a0002c0002t0002g0075 a0008c0013t0020g0037	3	106	0.0283	-179	c.136 others(19): Show c.1362-2763_1362-2585del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ANAPC10_chr4_144989576_145103196	145038831	AAAAAAAA others(172): Show AAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTATAAGAAGCAG GCAACAAATTCAACAGATACTTCTGATGACGAGACATCACTTTCTACAGA GAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTGGCATTGTATT TCTCAACATTTACAATAAAAACAATGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	336	0.0030	-179	c.327 others(19): Show c.327+25562_327+25740del		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANO9_chr11_412938_447011	425095	CGTGGAGA others(172): Show CGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGA CGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAA GGCGGCGTGGAGCGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGA CGGGACGCGCGGGAGCAAAAGGCGGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(235): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0014	a0001c0001 a0001c0006 a0001c0020 others(12): Show a0001c0001 a0001c0006 a0001c0020 a0001c0021 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0009 a0007c0008 a0008c0015 a0010c0014 a0011c0016 a0013c0018 a0014c0022	a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 a0001c0020t0001 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0004c0004t0001 a0005c0007t0001 a0006c0009t0001 a0007c0008t0001 a0008c0015t0001 a0010c0014t0001 a0011c0016t0001 a0013c0018t0001 a0014c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(230): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0002g0007 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0002g0222 a0001c0006t0003g0011 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0020t0001g0169 a0001c0021t0001g0258 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0081 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0139 a0002c0002t0001g0274 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0047 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0007g0067 a0003c0003t0001g0090 a0004c0004t0001g0030 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0044 a0004c0004t0001g0053 a0005c0007t0001g0198 a0005c0007t0001g0199 a0005c0007t0001g0201 a0005c0007t0001g0217 a0005c0007t0001g0242 a0006c0009t0001g0124 a0006c0009t0001g0179 a0006c0009t0001g0180 a0006c0009t0001g0209 a0007c0008t0001g0144 a0007c0008t0001g0158 a0007c0008t0001g0161 a0007c0008t0001g0162 a0007c0008t0001g0163 a0008c0015t0001g0260 a0008c0015t0001g0261 a0010c0014t0001g0026 a0010c0014t0001g0061 a0010c0014t0001g0064 a0011c0016t0001g0170 a0011c0016t0001g0171 a0013c0018t0001g0176 a0014c0022t0001g0051	238	286	0.8322	-179	c.133 others(19): Show c.1334+2814_1334+2992del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22						chr11	TogoVar
CAMK2B_chr7_44212154_44330594	44227417	GGGGTGTG others(172): Show GGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGA CAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGG GACAGAGGGGGATATGGGGGACAGAGGGAGTGTAGGGGACAGAGGAGGGT CTGGGGGGCAGAGGGAGAGTGTGGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0081 a0002c0009t0010g0081	1	242	0.0041	-179	c.146 others(17): Show c.1469-952_1469-774del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CARD10_chr22_37485362_37524415	37509721	GCCCAGCC others(172): Show GCCCAGCCCTGGTACCTGCTGCAGGTCCTTCTGACCTCCCCCGACCCCCA TGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCCCTCCTGACCTCCT GCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCTACCGCAGGCCCTCC TGACCACCCCCCACCCCCGTGCCCATGGGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG03486.hp2 HG02976.hp2 HG03225.hp1 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0013 a0002c0001 a0002c0013	a0002c0001t0006 a0002c0013t0006 a0002c0001t0006 a0002c0013t0006	a0002c0001t0006g0140 a0002c0001t0006g0143 a0002c0013t0006g0146 a0002c0001t0006g0140 a0002c0001t0006g0143 a0002c0013t0006g0146	3	276	0.0109	-179	c.909 others(15): Show c.909+312_909+490del		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19						chr22	TogoVar
CAV3_chr3_8728802_8751758	8742560	AAAAGAAT others(172): Show AAAAGAATTTCTCAGATGTATTTTCGAGGAATCTTCAGAGCACCTGAAGG AATAATTACCATCACTGAGCAATATTACCATCACAATAGCCAGGCATTGT GCTAAGCACTGCTCAAGAGGTAGTGTGCCTGGGCAAAGTGGGTAATCAAT CAGTATTTATTTGGATGTGTGGGTGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	476	0.0021	-179	c.115 others(17): Show c.115-2964_115-2786del		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CBLC_chr19_44772890_44805652	44801684	CTGCAGCC others(172): Show CTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGG AGTCCATACTGCAGCCCCTCCTTCCTCAGACCCAGTAGTCCATACTGCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02976.hp2 others(6): Show HG02145.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0002 a0000c0007 a0001c0006 others(1): Show a0000c0002 a0000c0007 a0001c0006 a0003c0005	a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 others(1): Show a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 a0003c0005t0001	a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 others(5): Show a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0001c0006t0001g0048 a0003c0005t0001g0066	9	344	0.0262	-179	c.11 others(11): Show c.1142_*1320del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					1033		chr19	TogoVar
CDK12_chr17_39456486_39539544	39499047	CTTTCTTT others(172): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTTTTTTTTTTTTTTTGA	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19082.hp1 NA18940.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0005 a0001c0001t0028	a0001c0001t0005g0037 a0001c0001t0028g0022 a0001c0001t0005g0037 a0001c0001t0028g0022	2	260	0.0077	-179	c.242 others(19): Show c.2420-2202_2420-2024del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13						chr17	TogoVar
CENPF_chr1_214598195_214669571	214667540	AATGCCTA others(172): Show AATGCCTATACAGTGATGGTGGGAATACAAATTAATTCAGCCACTCAGGA AAGCAATTTGGAGATTTCTCAAAGAACTTATACAATAGAACTACCATTCT ACCCAGCAATCCCATTACTGGGTATATACCCAAAGGCAAATAAATCATTC TGCCAAAAAGACACATGCACTCCTATGTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	282	0.0036	-179	c.37 others(11): Show c.3747_*3925del		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding					2970		chr1	TogoVar
CHD5_chr1_6096787_6185321	6160115	GCCCCAGC others(172): Show GCCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAAG AGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAGCCCTAGCCAGG GAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGAGAAGGAGAGCCCCAGC CAGGGAAGGGCCCCAGCCAGAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02818.hp1 others(9): Show HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0001c0019 others(3): Show a0001c0005 a0001c0009 a0001c0019 a0001c0021 a0001c0028 a0002c0006	a0001c0005t0006 a0001c0009t0014 a0001c0019t0085 others(3): Show a0001c0005t0006 a0001c0009t0014 a0001c0019t0085 a0001c0021t0005 a0001c0028t0014 a0002c0006t0001	a0001c0005t0006g0202 a0001c0009t0014g0059 a0001c0019t0085g0316 others(8): Show a0001c0005t0006g0202 a0001c0009t0014g0059 a0001c0019t0085g0316 a0001c0021t0005g0026 a0001c0021t0005g0027 a0001c0028t0014g0058 a0002c0006t0001g0002 a0002c0006t0001g0057 a0002c0006t0001g0060 a0002c0006t0001g0064 a0002c0006t0001g0216	12	320	0.0375	-179	c.208 others(15): Show c.208-779_208-601del		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41						chr1	TogoVar
CSNK2A3_chr11_11346942_11358250	11358071	TGCCTCCA others(172): Show TGCCTCCATCTCCTATGCCCATGTCCAATTTTAAAATCTCTTCTGTTTTC AGAAATGGTCACATAGAGGGCACCTGATCCCATTGTCTTACCTCAAAGTT TTTTCTTTCTTTTTACCTTAGTTTTATAGTTTTGGCTTTCTGTTGAATCC AGGTATTATATTTCTCTCTATCTTAACACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp2 others(45): Show HG00099.hp2 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG02055.hp2 HG02135.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03516.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp1 NA18967.hp1 NA18978.hp2 NA18982.hp1 NA18994.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19075.hp1 NA19080.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0020	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0020c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0006c0006t0001 a0020c0013t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0006c0006t0001g0000 a0020c0013t0001g0000	48	452	0.1062	-179	c.-51 others(11): Show c.-5131_-4953del		CSNK2A3	ENSG00000254598.3	transcript	ENST00000528848.3	protein_coding					4822		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097419	TGCCCGGC others(172): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	224	0.0045	-179	c.281 others(19): Show c.281-40186_281-40008del		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CYB5R3_chr22_42612840_42654392	42634685	GCACGATC others(172): Show GCACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCT CCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATCTGCCACCACGC CCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGTCT TGCTCTGTAGCCCAGGCTGGAGTGCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp2 others(132): Show HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0002c0004 a0003c0005 a0005c0010 a0006c0009 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0063 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0041 a0001c0003t0050 a0001c0003t0058 a0001c0006t0002 a0001c0007t0002 a0001c0011t0002 a0002c0002t0007 a0002c0002t0018 a0002c0002t0019 a0002c0002t0028 a0002c0002t0031 a0002c0002t0032 a0002c0002t0053 a0002c0002t0062 a0002c0004t0013 a0002c0004t0020 a0003c0005t0059 a0003c0005t0060 a0005c0010t0003 a0006c0009t0008 a0007c0008t0001	a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0001t0001g0264 others(109): Show a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0312 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0007g0240 a0001c0001t0007g0248 a0001c0001t0007g0250 a0001c0001t0007g0253 a0001c0001t0008g0007 a0001c0001t0008g0258 a0001c0001t0010g0023 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0013g0050 a0001c0001t0013g0309 a0001c0001t0018g0047 a0001c0001t0018g0048 a0001c0001t0028g0249 a0001c0001t0030g0247 a0001c0001t0030g0252 a0001c0001t0031g0319 a0001c0001t0046g0255 a0001c0001t0047g0245 a0001c0001t0048g0244 a0001c0001t0051g0277 a0001c0001t0063g0051 a0001c0003t0001g0034 a0001c0003t0001g0038 a0001c0003t0002g0009 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0004g0010 a0001c0003t0004g0035 a0001c0003t0041g0037 a0001c0003t0050g0032 a0001c0003t0058g0053 a0001c0006t0002g0270 a0001c0007t0002g0039 a0001c0011t0002g0272 a0002c0002t0007g0310 a0002c0002t0018g0046 a0002c0002t0019g0008 a0002c0002t0019g0033 a0002c0002t0028g0251 a0002c0002t0031g0315 a0002c0002t0032g0044 a0002c0002t0053g0049 a0002c0002t0062g0311 a0002c0004t0013g0041 a0002c0004t0020g0011 a0002c0004t0020g0052 a0003c0005t0059g0318 a0003c0005t0060g0316 a0005c0010t0003g0299 a0006c0009t0008g0308 a0007c0008t0001g0243	135	360	0.3750	-179	c.153 others(17): Show c.153+1851_153+2029del		CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	2/8						chr22	TogoVar
DDX51_chr12_132131594_132149319	132135319	TCCCGAGT others(172): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAG TGTGCCCACGGTGCCCACTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0031 a0012c0015t0017g0031	1	334	0.0030	-179	c.37 others(11): Show c.3774_*3952del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1274		chr12	TogoVar
EPHX1_chr1_225805124_225850563	225819063	TAAAAATA others(172): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(370): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(46): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0001c0022 a0001c0024 a0001c0028 a0001c0029 a0001c0033 a0001c0035 a0001c0036 a0001c0042 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0002c0002 a0002c0006 a0002c0009 a0002c0013 a0002c0025 a0002c0030 a0002c0037 a0002c0039 a0002c0040 a0003c0005 a0003c0007 a0003c0008 a0003c0014 a0003c0016 a0004c0010 a0004c0027 a0004c0041 a0005c0017 a0006c0034 a0007c0021 a0007c0031 a0008c0026 a0009c0020 a0010c0052 a0011c0051 a0012c0038 a0014c0043 a0015c0050 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0001c0022t0001 a0001c0024t0002 a0001c0028t0002 a0001c0029t0001 a0001c0033t0001 a0001c0035t0001 a0001c0036t0001 a0001c0042t0001 a0001c0044t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0009t0001 a0002c0013t0001 a0002c0025t0001 a0002c0030t0001 a0002c0037t0001 a0002c0039t0002 a0002c0040t0002 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0014t0001 a0003c0016t0001 a0004c0010t0001 a0004c0010t0004 a0004c0027t0001 a0004c0041t0001 a0005c0017t0001 a0006c0034t0002 a0007c0021t0001 a0007c0031t0001 a0008c0026t0001 a0009c0020t0001 a0010c0052t0001 a0011c0051t0001 a0012c0038t0001 a0014c0043t0001 a0015c0050t0001 a0016c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(353): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0359 a0001c0001t0001g0377 a0001c0001t0001g0379 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0002g0007 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0185 a0001c0001t0002g0208 a0001c0001t0002g0260 a0001c0001t0002g0307 a0001c0001t0002g0380 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0005g0136 a0001c0003t0001g0005 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0140 a0001c0003t0001g0154 a0001c0003t0001g0184 a0001c0003t0001g0212 a0001c0003t0001g0227 a0001c0003t0001g0268 a0001c0003t0001g0277 a0001c0003t0001g0287 a0001c0003t0001g0294 a0001c0003t0001g0323 a0001c0003t0001g0336 a0001c0003t0002g0045 a0001c0004t0001g0006 a0001c0004t0001g0015 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0055 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0004t0001g0099 a0001c0004t0001g0159 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0327 a0001c0004t0001g0383 a0001c0011t0001g0123 a0001c0011t0001g0316 a0001c0011t0001g0370 a0001c0011t0001g0373 a0001c0012t0001g0008 a0001c0012t0001g0228 a0001c0015t0001g0016 a0001c0015t0001g0101 a0001c0015t0001g0286 a0001c0015t0001g0303 a0001c0018t0001g0382 a0001c0018t0001g0386 a0001c0018t0001g0390 a0001c0018t0001g0396 a0001c0019t0001g0044 a0001c0019t0001g0074 a0001c0019t0001g0186 a0001c0022t0001g0004 a0001c0024t0002g0096 a0001c0024t0002g0111 a0001c0028t0002g0329 a0001c0028t0002g0330 a0001c0029t0001g0335 a0001c0033t0001g0098 a0001c0035t0001g0326 a0001c0036t0001g0080 a0001c0042t0001g0267 a0001c0044t0002g0264 a0001c0046t0001g0305 a0001c0047t0001g0308 a0001c0048t0001g0082 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0048 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0116 a0002c0002t0001g0131 a0002c0002t0001g0138 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0200 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0261 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0281 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0364 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0375 a0002c0002t0001g0387 a0002c0002t0002g0085 a0002c0002t0002g0239 a0002c0002t0002g0269 a0002c0002t0002g0374 a0002c0002t0002g0378 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0002g0391 a0002c0002t0002g0392 a0002c0002t0002g0395 a0002c0006t0001g0003 a0002c0006t0001g0056 a0002c0006t0001g0083 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0166 a0002c0006t0001g0209 a0002c0006t0001g0211 a0002c0006t0001g0282 a0002c0006t0001g0328 a0002c0006t0001g0334 a0002c0006t0001g0365 a0002c0006t0001g0369 a0002c0006t0001g0371 a0002c0006t0001g0372 a0002c0006t0001g0376 a0002c0009t0001g0160 a0002c0009t0001g0167 a0002c0009t0001g0197 a0002c0009t0001g0240 a0002c0009t0001g0241 a0002c0009t0001g0360 a0002c0009t0001g0361 a0002c0009t0001g0362 a0002c0013t0001g0149 a0002c0013t0001g0274 a0002c0013t0001g0318 a0002c0025t0001g0053 a0002c0025t0001g0324 a0002c0030t0001g0397 a0002c0037t0001g0088 a0002c0039t0002g0198 a0002c0040t0002g0278 a0003c0005t0001g0022 a0003c0005t0001g0031 a0003c0005t0001g0033 a0003c0005t0001g0035 a0003c0005t0001g0100 a0003c0005t0001g0102 a0003c0005t0001g0103 a0003c0005t0001g0104 a0003c0005t0001g0106 a0003c0005t0001g0125 a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0254 a0003c0005t0001g0255 a0003c0005t0001g0293 a0003c0005t0001g0295 a0003c0005t0001g0300 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0381 a0003c0007t0001g0047 a0003c0007t0001g0054 a0003c0007t0001g0129 a0003c0007t0001g0133 a0003c0007t0001g0188 a0003c0007t0001g0189 a0003c0007t0001g0192 a0003c0007t0001g0237 a0003c0007t0001g0265 a0003c0007t0001g0266 a0003c0007t0001g0279 a0003c0007t0001g0302 a0003c0008t0001g0139 a0003c0008t0001g0163 a0003c0008t0001g0177 a0003c0008t0001g0187 a0003c0008t0001g0199 a0003c0008t0001g0201 a0003c0008t0001g0203 a0003c0008t0001g0213 a0003c0008t0001g0216 a0003c0008t0001g0270 a0003c0014t0001g0021 a0003c0014t0001g0028 a0003c0014t0001g0029 a0003c0014t0001g0122 a0003c0014t0001g0256 a0003c0016t0001g0107 a0004c0010t0001g0037 a0004c0010t0001g0086 a0004c0010t0001g0183 a0004c0010t0001g0204 a0004c0010t0001g0258 a0004c0010t0004g0363 a0004c0027t0001g0038 a0004c0027t0001g0039 a0004c0041t0001g0298 a0005c0017t0001g0009 a0005c0017t0001g0120 a0005c0017t0001g0121 a0005c0017t0001g0124 a0006c0034t0002g0020 a0007c0021t0001g0222 a0007c0021t0001g0223 a0007c0031t0001g0219 a0008c0026t0001g0170 a0008c0026t0001g0174 a0009c0020t0001g0221 a0009c0020t0001g0224 a0010c0052t0001g0202 a0011c0051t0001g0230 a0012c0038t0001g0009 a0014c0043t0001g0046 a0015c0050t0001g0262 a0016c0032t0001g0220	373	422	0.8839	-179	c.-6+ others(15): Show c.-6+8908_-6+9086del		EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(172): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp1 HG02683.hp2 others(4): Show HG00438.hp2 HG02071.hp1 HG02683.hp2 HG03942.hp1 NA18948.hp1 NA18977.hp2 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0006 a0002c0007 others(2): Show a0001c0003 a0002c0006 a0002c0007 a0002c0011 a0004c0002	a0001c0003t0001 a0001c0003t0002 a0002c0006t0002 others(3): Show a0001c0003t0001 a0001c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0011t0006 a0004c0002t0010	a0001c0003t0001g0026 a0001c0003t0002g0304 a0002c0006t0002g0281 others(3): Show a0001c0003t0001g0026 a0001c0003t0002g0304 a0002c0006t0002g0281 a0002c0007t0003g0209 a0002c0011t0006g0221 a0004c0002t0010g0088	7	404	0.0173	-179	c.197 others(17): Show c.1977-702_1977-524del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM20B_chr1_179020894_179081567	179078678	TCCCAAAG others(172): Show TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTCCCAGGCCGAGACT TGCTTTTGACCCAGTGTTTCCAAGGCAGATGGTTCTGATTGCCTTCAGTG GGGTTGGGAAGATGTCTGTTGTAAAGCTAGGTCATACTCAGATGACATCA ATAAAGGTGTTGTGTGCCAATTTTGCCTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	408	0.0025	-179	c.65 others(11): Show c.6535_*6713del		FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding					2112		chr1	TogoVar
FBXL12_chr19_9805270_9824079	9820425	CCCTCTGG others(172): Show CCCTCTGGACAAGTGGCTGGCCCTGCACTCATGAGGGCTTCCAATGTGCT GCCCCCCCTATTAATACTCACCAATAAATTCTACTTCCTGTCCAAAAAAA AAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA TATATATACACACACACACACACACGCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG06807.hp1 NA20805.hp2 HG00323.hp2 HG06807.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	338	0.0089	-179	c.-17 others(11): Show c.-1791_-1613del		FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding					1347		chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241806122	CTCCCCCC others(172): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	314	0.0032	-179	c.19 others(11): Show c.1957_*2135del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1836		chr2	TogoVar
GLIS1_chr1_53501239_53744164	53502367	GGAGGGAC others(172): Show GGAGGGACAGGGAAAGAGGAGAGGGGGGAGGGAGAGGGAGAGAAGAGAGG GATGAGGGGGATGGGGAGAGAGGAGAAGGGGGAGGGACAGGGAAAGAGGA GAGGGGGGAGGGAGAGGGAGAGAAGAGAGGGATGAGGGGGATGGGGAGAG AGGAGAAGGGGGAGGGACAGGGAGTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG03453.hp2 others(5): Show HG02723.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0004 a0007 others(4): Show a0001 a0004 a0007 a0010 a0021 a0022 a0028	a0001c0001 a0004c0004 a0004c0027 others(5): Show a0001c0001 a0004c0004 a0004c0027 a0007c0008 a0010c0017 a0021c0038 a0022c0031 a0028c0025	a0001c0001t0004 a0004c0004t0003 a0004c0027t0003 others(5): Show a0001c0001t0004 a0004c0004t0003 a0004c0027t0003 a0007c0008t0003 a0010c0017t0006 a0021c0038t0004 a0022c0031t0004 a0028c0025t0003	a0001c0001t0004g0229 a0004c0004t0003g0018 a0004c0027t0003g0004 others(5): Show a0001c0001t0004g0229 a0004c0004t0003g0018 a0004c0027t0003g0004 a0007c0008t0003g0041 a0010c0017t0006g0050 a0021c0038t0004g0095 a0022c0031t0004g0171 a0028c0025t0003g0010	8	236	0.0339	-179	c.40 others(11): Show c.4073_*4251del		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding					3871		chr1	TogoVar
GNAL_chr18_11684264_11890685	11768986	TCTATATT others(172): Show TCTATATTATAATATAGAATATATATATTCTATATTATAATATATTATAT ATAATATATAATATATATAATATATATTATAATATAGATTATATAAATTA TATGTAATATATATTATAATATAGATTATATAAATTATATGTAATATATA TTATAATATAGATTATATAAATTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02572.hp2 others(14): Show HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0028 a0001c0001t0040 others(12): Show a0001c0001t0003 a0001c0001t0028 a0001c0001t0040 a0001c0001t0060 a0001c0001t0152 a0001c0001t0156 a0001c0001t0160 a0001c0001t0163 a0001c0001t0170 a0001c0001t0173 a0001c0001t0175 a0001c0001t0179 a0003c0003t0014 a0003c0003t0054 a0003c0003t0067	a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0028g0101 others(14): Show a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0028g0101 a0001c0001t0028g0224 a0001c0001t0040g0065 a0001c0001t0060g0247 a0001c0001t0152g0042 a0001c0001t0156g0032 a0001c0001t0160g0030 a0001c0001t0163g0022 a0001c0001t0170g0041 a0001c0001t0173g0040 a0001c0001t0175g0038 a0001c0001t0179g0036 a0003c0003t0014g0097 a0003c0003t0054g0055 a0003c0003t0067g0056	17	248	0.0686	-179	c.624 others(19): Show c.624+15042_624+15220del		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11						chr18	TogoVar
GNAL_chr18_11747085_11890685	11768986	TCTATATT others(172): Show TCTATATTATAATATAGAATATATATATTCTATATTATAATATATTATAT ATAATATATAATATATATAATATATATTATAATATAGATTATATAAATTA TATGTAATATATATTATAATATAGATTATATAAATTATATGTAATATATA TTATAATATAGATTATATAAATTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02572.hp1 others(14): Show HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0041 others(10): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0041 a0001c0001t0053 a0001c0001t0087 a0001c0001t0090 a0001c0001t0115 a0001c0001t0119 a0001c0001t0146 a0001c0001t0148 a0001c0001t0151 a0001c0001t0156 a0001c0001t0165	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0188 others(14): Show a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0019g0079 a0001c0001t0019g0190 a0001c0001t0041g0057 a0001c0001t0053g0109 a0001c0001t0087g0186 a0001c0001t0090g0192 a0001c0001t0115g0193 a0001c0001t0119g0108 a0001c0001t0146g0130 a0001c0001t0148g0187 a0001c0001t0151g0191 a0001c0001t0156g0102 a0001c0001t0165g0054	17	284	0.0599	-179	c.393 others(19): Show c.393+15042_393+15220del		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11						chr18	TogoVar
GRIK2_chr6_101388708_102075083	101761790	TCCCTTCC others(172): Show TCCCTTCCTTTCTTCCTTCCTTCCTTCTTTTCTTTTCTTCCTTTGTTTCC TTTCCTTCCTTCCCTTCCTTTCCTTTCCCCTCCCTTCCTTTCCTTCCTTC CTCCCTTCTTTTCTTTTCTTCCTTTCTTTCCTTTGTTTGTTTCTTTTCCT TCCTTTCCTTCCTTCCCTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0019 a0001c0010t0016 a0001c0001t0019 a0001c0010t0016	a0001c0001t0019g0023 a0001c0010t0016g0060 a0001c0001t0019g0023 a0001c0010t0016g0060	2	116	0.0172	-179	c.952 others(19): Show c.952-37853_952-37675del		GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
H1-7_chr12_48323980_48335279	48332507	CAGAGGGG others(172): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG03130.hp1 others(2): Show HG02486.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000	5	424	0.0118	-179	c.24 others(11): Show c.2449_*2627del		H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding					2229		chr12	TogoVar
HRH3_chr20_62209960_62225278	62213106	GAAGGAGA others(172): Show GAAGGAGAGCGGGGATGGGGGGTAAGGAGAGTGGGGATGGGTGGGGGAAG GAGAGCGGGGATGGGGGGGGTAAGGAGAGCGGGGATGGGTGGGGGAAGGA GAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGA TGGGGGGTAAGGAGAGCGGGGATGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	368	0.0027	-179	c.27 others(11): Show c.2721_*2899del		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1853		chr20	TogoVar
IGFALS_chr16_1785413_1798705	1795924	CCTGCCTC others(172): Show CCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGAACCACCACAC CTGGCTAATTTTTATTTTATTTTATTTATTTATTTTTTGAGATGGAGTCT CAGTCTGTTACCAGGGCTGGAGTCCAGTGGTGTGATCTCCGCTCACTGCA ACCTCCACCTCCCATGTTCAAGCGAGTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	452	0.0022	-179	c.-24 others(11): Show c.-2451_-2273del		IGFALS	ENSG00000099769.6	transcript	ENST00000215539.4	protein_coding					2220		chr16	TogoVar
INO80D_chr2_205988721_206091174	205988745	TAACTAAA others(172): Show TAACTAAAATAAAATAAAATAAATAAAATAAAATAAAATAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAATAAAAT AAAATAAATAAAATAAATAAAATAAATAAAATAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(90): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA18940.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19085.hp1 NA19088.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0006c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0064 a0001c0008t0019 a0002c0002t0001 a0002c0002t0010 a0002c0002t0039 a0006c0014t0003	a0001c0001t0003g0002 a0001c0001t0003g0039 a0001c0001t0003g0040 others(88): Show a0001c0001t0003g0002 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0095 a0001c0001t0003g0154 a0001c0001t0003g0282 a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0012g0080 a0001c0001t0012g0082 a0001c0001t0012g0084 a0001c0001t0012g0086 a0001c0001t0015g0006 a0001c0001t0015g0007 a0001c0001t0015g0010 a0001c0001t0018g0005 a0001c0001t0018g0008 a0001c0001t0020g0037 a0001c0001t0020g0038 a0001c0001t0021g0046 a0001c0001t0021g0053 a0001c0001t0024g0013 a0001c0001t0025g0029 a0001c0001t0026g0004 a0001c0001t0027g0009 a0001c0001t0028g0052 a0001c0001t0029g0063 a0001c0001t0030g0062 a0001c0001t0032g0045 a0001c0001t0064g0331 a0001c0008t0019g0205 a0001c0008t0019g0206 a0002c0002t0001g0107 a0002c0002t0001g0123 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0010g0137 a0002c0002t0039g0130 a0006c0014t0003g0075	93	334	0.2784	-179	c.15 others(13): Show c.15444_*15622del		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding					4975		chr2	TogoVar
LATS2_chr13_20968036_21066586	21007544	AGTATATA others(172): Show AGTATATATATATATATATATATATATATATATATATATATATAGTATAT ATATATATAGTGTGTATATATATATATAGTGTATATATATATATATATAT AGTGTGTGTATATATATATAGTGTGTATATATATATATAGTATATATATA TATATAGTATGTATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0030 a0005c0012t0002g0030	1	316	0.0032	-179	c.343 others(19): Show c.343-16319_343-16141del		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LCN15_chr9_136754634_136769518	136769339	CCCCCCCG others(172): Show CCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCACCC CATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCCATGCACTTCCCCCC CGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACACCC CCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	356	0.0028	-179	c.-50 others(11): Show c.-5030_-4852del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4822		chr9	TogoVar
LETM1_chr4_1806479_1861156	1829164	GGGGCTGA others(172): Show GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCAGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0169 a0001c0017t0001g0169	1	200	0.0050	-179	c.108 others(19): Show c.1080+3401_1081-3482del		LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding	6/13						chr4	TogoVar
MYOM2_chr8_2040046_2150456	2086099	CCCCCACT others(172): Show CCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTG CGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTT TGCGTGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0069 a0003c0069	a0003c0069t0001 a0003c0069t0001	a0003c0069t0001g0241 a0003c0069t0001g0241	1	403	0.0025	-179	c.164 others(17): Show c.1644+719_1644+897del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086109	TGTGATCT others(172): Show TGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCA CTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCC CACTGTCATGATCTCTGGCACCCCACTGTC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0351 a0003c0001t0001g0351	1	403	0.0025	-179	c.164 others(17): Show c.1644+728_1644+906del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086118	TTTGTGGC others(172): Show TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCAT GATCTCTGGCACCCCACTGTCGTGATCTCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0156 a0003c0156	a0003c0156t0002 a0003c0156t0002	a0003c0156t0002g0277 a0003c0156t0002g0277	1	403	0.0025	-179	c.164 others(17): Show c.1644+729_1644+907del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086181	CCACTGTC others(172): Show CCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCC CCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACC CCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0032 a0032	a0032c0072 a0032c0072	a0032c0072t0002 a0032c0072t0002	a0032c0072t0002g0028 a0032c0072t0002g0028	1	403	0.0025	-179	c.164 others(17): Show c.1644+793_1644+971del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NCOR2_chr12_124319415_124572612	124373232	TGAGGCCA others(172): Show TGAGGCCAGTGCGTGTGCAGGGGACCCGGGCACAGTGGACAATCATGAGG CCAGTGCGTGTGCAGGGGCCCGGGCACAGTGGACAATCATGAGGCCAGTG CGTGTGCAGGGGCCCCGGGCACAGTGGACAATCATGAGGCCAGTGCGTGT GCAGGGGCCCCGGGCACAGTGGACAATCAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0040 a0040	a0040c0100 a0040c0100	a0040c0100t0077 a0040c0100t0077	a0040c0100t0077g0230 a0040c0100t0077g0230	1	234	0.0043	-179	c.221 others(17): Show c.2219-801_2219-623del		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NEU4_chr2_241804193_241822413	241806122	CTCCCCCC others(172): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-179	c.-31 others(11): Show c.-3155_-2977del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3070		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521117	GGCGTCTG others(172): Show GGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTAGGGGGGGAGCATCC ACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGCTGATATGTGTGTCT GTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGG GCATCCGCTGATGTGTGTGTCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0022 a0002c0047t0022	a0002c0047t0022g0229 a0002c0047t0022g0229	1	322	0.0031	-179	c.278 others(19): Show c.2783-6409_2783-6231del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NPAS2_chr2_100815139_101001829	100953023	TCATTCTA others(172): Show TCATTCTAACTGGGATTAAAATAGCAAAAATTGTCAGAGACAAATGAATT TCTCAGGTTAAACCCTATAAAGGCCAGATGCAGTGGCTCACACCTGTAAT CCCAGCCCTTTGGGAGGCCAAGGCAGGAGATCACCTGAGGTCAGGAGTTT GAAACCAGCCTGGCCAACATGGCGAAACCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01106.hp1 others(9): Show HG00280.hp1 HG00741.hp1 HG01106.hp1 HG02056.hp2 HG02738.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03654.hp2 HG04228.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0005c0022	a0001c0001t0001 a0002c0003t0005 a0002c0005t0002 others(3): Show a0001c0001t0001 a0002c0003t0005 a0002c0005t0002 a0002c0005t0006 a0002c0005t0013 a0005c0022t0001	a0001c0001t0001g0128 a0002c0003t0005g0029 a0002c0005t0002g0020 others(9): Show a0001c0001t0001g0128 a0002c0003t0005g0029 a0002c0005t0002g0020 a0002c0005t0002g0046 a0002c0005t0002g0116 a0002c0005t0002g0136 a0002c0005t0006g0167 a0002c0005t0006g0190 a0002c0005t0006g0193 a0002c0005t0013g0198 a0002c0005t0013g0266 a0005c0022t0001g0258	12	288	0.0417	-179	c.598 others(17): Show c.598+3547_598+3725del		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NRG2_chr5_139841781_140048299	139916468	ACTGTGCA others(172): Show ACTGTGCAGCCATCACTGCAATAAGTTTTGGAACATTTTCATCATCCCCA AAAGAAACCTCGTACTCTTTAGCACCCCCTCCCCCTGCCATCCCCTTCAT CCCCTGGCAACCACTGATTGACTTTCTGTCACCACAGATTTGCCTGTTCT GGAAACTTCATATAAATGGAATCATACAAT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	188	0.0053	-179	c.701 others(19): Show c.701-29136_701-28958del		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
NSMF_chr9_137442570_137464334	137451076	ACGCCTCT others(172): Show ACGCCTCTTCCCCTTGATCTTCCCCTGCCACACGTCTCTTCCCCTTGATC TCCCGCGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCTCTTCCC CTTGGTCTTCCCCACCACACGCCTCTTCCCCTTGGTCTCCCCCGCCACGT CTCTTCCCCTTGGTCTTCCTTGGCCACACG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0159 a0001c0001t0020g0159	1	414	0.0024	-179	c.123 others(18): Show c.1237-1000_1237-822del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
NXNL1_chr19_17450425_17465926	17463767	TGAAAGGA others(172): Show TGAAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAAAGAAGAAGAAGAAAAGAAGAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(58): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp2 NA18942.hp1 NA18950.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp2 NA19090.hp2 NA20300.hp2	a0000 a0001 a0000 a0001	a0000c0008 a0001c0001 a0000c0008 a0001c0001	a0000c0008t0001 a0001c0001t0001 a0000c0008t0001 a0001c0001t0001	a0000c0008t0001g0040 a0001c0001t0001g0002 a0001c0001t0001g0014 others(17): Show a0000c0008t0001g0040 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091	61	408	0.1495	-179	c.-30 others(11): Show c.-3077_-2899del		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2842		chr19	TogoVar

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